hrp0082p3-d1-961 | Sex Development | ESPE2014

Three Siblings Extremely Androgen Insensitivity Syndrome Due to an AR Mutation with Differing Phenotypes

Yuksel Bilgin , Ucakturk Eda Mengen , Gurbuz Fatih , Topaloglu Ali Kemal

Background: Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY sexual differentiation disorders. Clinical presentation is variable among cases with a range from a complete female to male external genitalia. There is a weak correlation between genotype and phenotype.Aım: Our aim is to report clinical and molecular characteristics of siblings with AIS.Patients and methods: Two siblings newborns with ambiguou...

hrp0082p3-d1-814 | Growth | ESPE2014

A Novel GH1 Functional Mutation in a Family with Isolated GH Deficiency

Yuksel Bilgin , Gurbuz Fatih , Bisgin Atil , Ucakturk Eda Mengen , Topaloglu Ali Kemal

Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...

hrp0082p3-d1-932 | Puberty and Neuroendocrinology | ESPE2014

Idiopathic Hypogonadotropic Hypogonadism due to a GNRH1 Mutation

Ucakturk Eda Mengen , Kotan Leman Damla , Gurbuz Fatih , Yuksel Bilgin , Topaloglu Ali Kemal

Background: Idiopathic hypogonadotropic hypogonadism may be normosmic (nIHH) or it may be associated with anosmia, which is known as Kallmann syndrome (KS). First mutation GNRH1 was described in 2009 in patients with nIHH. Mutations of the human GNRH1 gene are a very rare cause of nIHH, with only six mutations so far described.Case: The proband is a 11.3-year-old boy who first presented at age 1 with micropenis and cryptorchidism. His p...

hrp0082p3-d1-957 | Sex Development | ESPE2014

5α-Steroid Reductase 2 Deficiency in a Large Family

Ucakturk Eda Mengen , Kor Yilmaz , Gurbuz Fatih , Topaloglu Ali Kemal , Yuksel Bilgin

Background: 5α-Reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. DHT is responsible for the differentiation of male external genitalia. Mutations in the 5α-steroid reductase type 2 gene (SRD5A2) result in incomplete masculinisation of the external genitalia in subjects with a 46,XY karyotype. The clinical spectrum of a 46,XY individual with 5α-reductase deficiency at birth can range from complete femal...